Ring 19 mosaicism detected during prenatal diagnosis.
A ring chromosome 19 was found in 14 of 20 metaphases (67 per cent) derived from amniotic fluid cell cultures following amniocentesis because of increased maternal age. Elective termination of the pregnancy revealed a hypotrophic female fetus with mild dysmorphic signs, but no congenital malformations. The case is discussed in relation to three reports in the literature of ring chromosome 19 mosaicism in a phenotypically normal girl, a mentally retarded man, and a boy with normal psychomotor development and minor dysmorphic features.
Gillessen-Kaesbach
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Institut für Humangenetik, Universitätsklinikum Essen, Germany.
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D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D000649:Amniocentesis; D002888:Chromosomes, Human, Pair 19; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D009030:Mosaicism; D009056:Mouth Abnormalities / Q000175:diagnosis; D011247:Pregnancy; D012303:Ring Chromosomes